title: Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: S
authors.initials: S
authors.lastname: Claes
authors.forename: T
authors.initials: T
authors.lastname: Aguirre
authors.forename: V
authors.initials: V
authors.lastname: Simosa
authors.forename: T
authors.initials: T
authors.lastname: Bustos
authors.forename: R
authors.initials: R
authors.lastname: Lander
authors.forename: M
authors.initials: M
authors.lastname: Piras
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: P
authors.initials: P
authors.lastname: Raeymaekers
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017384:Sequence Deletion; D014687:Venezuela
chemical_list: D018076:DNA, Complementary; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules